research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
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research eLife assessment: CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
research PTEN Mediates Activation of Core Clock Protein BMAL1 and Accumulation of Epidermal Stem Cells
PTEN helps control the number and health of skin stem cells by working with the protein BMAL1.
research Peer Review #2 of "Potential use of human hair shaft keratin peptide signatures to distinguish gender and ethnicity (v0.1)"
Keratin peptide signatures in hair may help identify gender and ethnicity.
research Characters of KRT80 and its roles in neoplasms diseases
KRT80 may worsen cancer by increasing growth and spread, but its full effects on treatment and outcomes need more research.
research Erosive Pustular Dermatosis of the Scalp Mimicking Squamous Cell Carcinoma: Can Dermoscopy Be Helpful?
Biopsy is crucial for accurately diagnosing EPDS to avoid mistaking it for SCC.
research Epidermolysis Bullosa Simplex Keratinocytes Show Disturbed Mitochondrial Positioning and Activity
Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
research Label-free proteomics to identify keratins and keratin-associated proteins and their effects on the fleece traits of Inner Mongolia Cashmere Goats
Proteins influence the quality and traits of cashmere goat fleece, affecting hair strength and diameter.
research Odontogenic Keratocysts Arise from Quiescent Epithelial Rests and Are Associated with Deregulated Hedgehog Signaling in Mice and Humans
Odontogenic keratocysts are caused by abnormal Hedgehog signaling and can lead to tooth and bone issues.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research LB1256 TRIV-509, a dual inhibitor of KLK5 and KLK7, rapidly improves barrier integrity and markers of epidermal differentiation in atopic dermatitis skin explants
TRIV-509 quickly improves skin barrier and cell health in atopic dermatitis.
research Expression patterns of programmed cell death 4 protein in normal human skin and some representative skin lesions
Increasing PDCD4 protein may help prevent or treat some skin cancers.
research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility
Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research Eosinophilic pustular folliculitis (Ofuji’s disease) without macroscopic pustules
EPF can occur without visible pustules.
research Identification of Ectodysplasin Target Genes Reveals the Involvement of Chemokines in Hair Development
Chemokine signaling is important for hair development.
research KCNQ4 K+ channels tune mechanoreceptors for normal touch sensation in mouse and man
research A Novel Human Type II Cytokeratin, K6hf, Specifically Expressed in the Companion Layer of the Hair Follicle
K6hf is a unique protein found only in a specific layer of hair follicles.
research Isolation and Characterization of Human Repetin, a Member of the Fused Gene Family of the Epidermal Differentiation Complex
Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
research Postzygotic KRAS G12C mutation, associated with various malignancies, is also underling epidermal nevus syndrome
A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
research KID Syndrome: Report of a Case and Support for Its Reclassification as an Ectodermal Dysplasia
KID syndrome should be reclassified as an ectodermal dysplasia.
research Cirmcumscribed juvenile pityriasis rubra pilaris in a 5-year-old-girl treated with topical keratolytic and steroid
A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
research Epidermal differentiation: The role of proteases and their inhibitors
Balanced protease activity is crucial for healthy skin and hair development.
research 455 Beyond Immunity: TEC and JAK3 Kinase Activation in Melanocytes Drives Inflammation in Vitiligo
TEC kinases may help cause inflammation in vitiligo and could be targeted for treatment.
research 1346 Functional roles of Krox20 (Egr2) in Epithelial Stem Cells
Krox20 (Egr2) is important for the function of epithelial stem cells.
research 126 cAMP response element-binding protein 1 (CREB) is a β-catenin-regulated transcription factor in squamous cell carcinoma (SCC) cells
CREB, a protein that can promote cancer traits, is controlled by β-catenin in skin cancer cells.
research Stanowisko Polskiego Towarzystwa Endokrynologicznego, Polskiego Towarzystwa Ginekologów i Położników oraz Polskiego Towarzystwa Endokrynologii Ginekologicznej w sprawie diagnostyki i leczenia zespołu policystycznych jajników
Polish medical societies recommend personalized treatment for PCOS based on the patient's specific symptoms and use the Rotterdam criteria for diagnosis.
research Organization of microfibrils in keratin fibers studied by X-ray scattering
The study improved understanding of keratin fiber structure by showing consistent microfibril diameter but varying distances and electron density profiles.
research SPT6 maintains epidermal homeostasis by inhibiting an NF-κB-positive feedback loop to prevent excessive inflammation
SPT6 prevents excessive skin inflammation by blocking a feedback loop.
research 41824 Palmoplantar psoriasis complete clearance is achieved rapidly and sustained with ixekizumab treatment in adult and pediatric patients with moderate-to-severe plaque psoriasis
Ixekizumab quickly and effectively clears palmoplantar psoriasis in both adults and children.